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Expanding the Phenotypic spectrum of<i>NAA10</i>-related neurodevelopmental syndrome and<i>NAA15</i>-related neurodevelopmental syndrome

2022-08-23

Abstract excerpt

Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex, also including the accessory protein, NAA15. The full spectrum of human genetic variation in this pathway is currently unknown. Here we reveal the ge...

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Literature Corpus work
4efc5c91-d728-52cc-9463-6ae07fd045ce
DOI
10.1101/2022.08.22.22279061
Open publication

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Expanding the Phenotypic spectrum of<i>NAA10</i>-related neurodevelopmental syndrome and<i>NAA15</i>-related neurodevelopmental syndromeDOI 10.1101/2022.08.22.22279061
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